Variant report

Variant	rs11730089
Chromosome Location	chr4:7520933-7520934
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7516092..7517714-chr4:7519119..7521315,2	K562	blood:
2	chr4:7512552..7515805-chr4:7517576..7521782,4	MCF-7	breast:
3	chr4:7520525..7523407-chr4:7542100..7544094,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11729654	1.00[YRI][hapmap]
rs4234814	1.00[YRI][hapmap]
rs4411993	1.00[YRI][hapmap]
rs6446608	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv878561	chr4:7402284-7544610	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv878563	chr4:7420785-7529367	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878564	chr4:7421007-7535214	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv878566	chr4:7456717-7529367	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv878567	chr4:7456717-7544610	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv878568	chr4:7490246-7529367	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv878569	chr4:7496857-7544610	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7515800-7522000	Enhancers	Fetal Heart	heart
2	chr4:7518800-7521600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7518800-7523600	Weak transcription	Right Atrium	heart
4	chr4:7519000-7521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:7519400-7522200	Enhancers	Fetal Brain Female	brain
6	chr4:7520000-7521400	Enhancers	Brain Hippocampus Middle	brain
7	chr4:7520000-7522000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr4:7520000-7522800	Enhancers	Brain Germinal Matrix	brain
9	chr4:7520000-7524400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:7520200-7521400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:7520200-7521600	Enhancers	Brain Angular Gyrus	brain
12	chr4:7520200-7521600	Enhancers	Brain Substantia Nigra	brain
13	chr4:7520200-7522200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:7520200-7525400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr4:7520400-7521200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:7520400-7521400	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:7520400-7521600	Enhancers	Left Ventricle	heart
18	chr4:7520400-7521800	Enhancers	Right Ventricle	heart
19	chr4:7520400-7524600	Enhancers	Fetal Brain Male	brain
20	chr4:7520600-7522000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr4:7520600-7522200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:7520800-7521400	Weak transcription	Brain Anterior Caudate	brain
23	chr4:7520800-7521600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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